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Neurofibromatosis Type 1 with Phrenic Nerve Neurofibromas and Left Hemidiaphragm Denervation after MPNST Treatment

Imaging findings

A man with neurofibromatosis type 1 and a long-standing malignant peripheral nerve sheath tumor at the left apex, treated with radiation and resection, has scoliosis with spinal rods and pedicle screws. There are extensive, almost continuous plexiform neurofibromas along both sides of the spine. Discrete neurofibromas also follow the right phrenic nerve. The left hemidiaphragm is elevated, and its crus and anterior muscle are thin and speckled with fat (myosteatosis), compared with normal muscle thickness on the right. A radiograph from 2019, before most of the apical tumor treatment, did not show the elevation.

Key takeaways

The phrenic nerve is just another nerve and can carry neurofibromas in NF1. A thin, fat-infiltrated hemidiaphragm crus and muscle (myosteatosis) is a CT sign of phrenic denervation. Comparing with older imaging helps decide whether the denervation came from the tumor or from its treatment. Here it appeared after radiation and resection of the apical tumor.

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